A French national study compared different conditions and health care utilization in individuals < 65 years with Down syndrome with those without

Population characteristics

In 2019, the prevalence of DS was 0.055% in individuals of all ages (Fig. 1) and 0.068% when excluding IDS over age 65 (3% of 36,464 IDS). For IDS under 10 years of age (born 2009–2019), the prevalence is relatively even, around 0.07%. The prevalence of IDS decreased to 0.05% for those aged 10–19 years (born 2000–2009) and increased to 0.08% for those aged <30 years (born 1990–1999). . The prevalence then stabilizes at about 0.07% until age 54, after which it declines rapidly.

Figure 1

Prevalence of Down syndrome in France in 2019 by sex, age and year of birth (N = 36,464).

Women accounted for 48% of DS cases (Table 1). A quarter of IDS had at least one other LTD (RR = 2.3). This proportion was similar across age groups, but the RR values ​​decreased with age, due to an increase in the incidence of other LTDs with age in the IWDS (1 year, RR = 20.1; 50–64 years, RR = 1.3). The proportion of IDS was higher in FOT, especially for the youngest age group (< 1 year 0.15%, RR = 2.3; 50–64 years 0.05%, RR = 0.8).

Table 1 Comparison of sociodemographic characteristics, LTD and death rates by age between individuals with and without DS (odds ratio).

Social insecurity, defined in relation to a low income threshold (which is used for C2S eligibility), was more common for IDS in all age groups (24.6%, RR = 1.7), but especially for the youngest , whose income is entirely dependent on their family or household (< 1 year, 43%, RR = 2.2).

Overall mortality was higher in IDS under 65 years of age (4.6%, RR = 10.2) (Table 1). Mortality in IDS under one year of age was particularly high and a significant excess was noted (4.3%, RR = 18.9) and also for those aged 1–4 years (0.9%, RR = 22, 5) or 5–9 years (0.3 % RR = 16.8). Mortality subsequently reached a relatively stable plateau with RRs between 6 and 12. Mortality then began to rise again in the DS population after ages 30–39 to reach 16.9% between ages 50 and 64.

Comorbid conditions

The mapping tool showed that tumors were generally less frequent for IDS than for IWDS (1.6%, RR = 0.7), regardless of whether these tumors were under surveillance (0.7%, RR = 0.7 ) or treated (0.9%, RR = 0.8), or patients were hospitalized at least once in 2019 (0.5%, RR = 0.5) (Tables 2, 4). However (Table 3), myeloid leukemia (0.1%, RR = 4.6) and lymphoid leukemia (0.2%, RR = 6.1) were more common among IDS, especially in the younger population. A similar result was obtained for testicular tumors (0.3%, RR = 4.5) (Table 2) and young IDS were also hospitalized more often than IWDS for abnormal testes or cryptorchidism (0.3%, RR = 5, 9) (Table 4).

Table 2 Comparison of diseases managed using mapping tools* by age between individuals with and without DS (incidence ratio).
Table 3 Comparison of frequencies of hospital diagnoses (ICD-10 code)* for persons with at least one hospitalization in 2019 by age between persons with and without DS (percentage ratio).
Table 4 Prevalence of LTD (ICD-10 code)* for persons with at least one LTD in 2019 by age between persons with and without DS (percentage ratio).

For infectious diseases, IWDS, especially adults, were more likely to have LTD status for chronic viral hepatitis B without a delta agent (0.3%, RR = 5.3) (Table 4). IDS were also more likely to be hospitalized for enteric viral infections and other types of gastroenteritis and colitis (0.4%, RR = 4.4), especially during childhood (Table 3).

IDS were more often hospitalized (Table 3). Type 1 diabetes was more common among hospital diagnoses (0.2%, RR = 2.8) and LTD (0.8%, RR = 2.2) of IDS than IWDS (Tables 2, 3). The same was true for hypothyroidism (0.1%, RR = 71.8; 0.6%, RR = 49.0). IDS were more frequently affected by inherited metabolic diseases or amyloidosis (0.6%, RR = 4.0) (Table 2).

Mental retardation was the most common mental or behavioral disorder observed in IWDS (LTD 4.2%, RR = 20.8) (Table 2). The most common neurological disorders in IWDS were epilepsy (4.2%, RR = 9.1) and dementia (1.2%, RR = 28.7). IDS were also more likely than IWDS to be hospitalized for sleep apnea (1.1% RR = 8.3, at each age) (Table 3).

IDS were more likely to have ophthalmic diseases (Table 3), such as LTD status for keratoconus, although the incidence of such diseases remained low (0.1%, RR = 26.4). IDS were also more frequently hospitalized for eye conditions (1.3%, RR = 4.6) and ENT conditions (1.2%, RR = 7), such as otitis media, middle ear cholesteatoma, and conductive deafness.

Cardiovascular disease was also present in excess among IDS (9.5%, RR = 3.7) (Table 2). Analyzes of LTDs showed that there was a very high incidence of cardiac malformations in IWDS (5.2%, RR = 52.2), especially those under four years of age (about 15%) (Table 3). Valvular disease (0.9%, RR = 5.8) and heart failure (1.2%, RR = 6.7) were reported more frequently in IWDS, as were rhythm and conduction disorders, although to a lesser extent. grade (1.3%, RR = 2.3) (Table 2). RRs for these conditions were higher in younger patients. Hospitalization for pulmonary hypertension was also more common among IDS than among those without DS (0.1%, RR = 21.9), especially for the younger age groups.

Chronic respiratory diseases were more common in IDS (6.2%, RR = 1.5) (Table 2), who were also more likely to have LTDs such as asthma (0.5%, RR = 2.1) and chronic respiratory failure (0.2%, RR = 3.1) (Table 3). The most common hospital diagnosis in IDS was pneumonitis (1.2%, RR = 17.8), especially pneumonitis caused by aspiration of food and other substances (0.7%, RR = 89.2). Tonsil hypertrophy was also particularly common in IWDS under 20 years of age (0.8%, RR = 5.5). They were also more often hospitalized for bronchitis (0.2%, RR = 14.4), bronchiolitis (0.5% RR = 6.2) and respiratory failure (0.4%, RR = 16.9) . IDS were more likely to have LTD status for scoliosis (0.2% RR = 2.9) but less likely to have gastrointestinal disease (0.4%, RR = 0.8) (Table 2). However, in the first few years of life, they more often had LTD status for certain relatively rare diseases or recorded hospitalizations for paralytic ileus and intestinal occlusions without herniation (0.3% RR = 6.1) (Table 3 ).

LTD status for genitourinary conditions (0.3% RR = 2) was particularly common in IDS in the first year of life (0.8%, RR = 68.7) (Table 2). They were also more often hospitalized for these diseases (1.2% RR = 1.2), especially those affecting urethral structures (0.1% RR = 11.3) (Table 3).

Healthcare use

In 2019, IDS were more likely than IWDS to have at least one visit to any type of health care (Table 5). For general practitioners, the frequency of visits was similar between the two groups (88.1%, RR = 1). However, the average number of annual consultations was higher for IDS (5 vs. 3). They also visited medical specialists more often and in particular ENT (22.1%, RR = 3.0), cardiologists (17.2%, RR = 2.6) and neurologists (5.1%, RR = 2,4). They also had higher visit rates for some surgical specialties, such as pediatric (2.1%, RR = 3.1) and thoracic (0.3%, RR = 1.9) surgery. IDS also consulted physical therapists (17.6%, RR = 1.2) and nurses (45%, 1.7) more often than IWDS, especially for the younger age groups, but did not consult more often with dentists (38%, RR = 0.9). The mean annual number of visits to health professionals as outpatients was generally similar between the two groups, except for physiotherapists (24 vs 12) and psychiatrists (4 vs 3), who were more frequently consulted by IDS.

Table 5 Frequency of persons with DS having at least one outpatient or hospital visit, emergency department visit, or hospital stay in 2019 compared to persons without DS, by age and mean number of visits and hospitalizations.

For some of the most commonly used medical specialties, visit rates are high for the youngest age groups and then decrease or stabilize with age (Fig. 2). This pattern is seen in paediatricians, but also in ENT specialists, ophthalmologists, cardiologists and physiotherapists. For other specialists, such as neurologists, gynecologists and dermatologists, the frequency of visits increases with age or stabilizes at the same level.

Figure 2
figure 2

Frequency of at least one visit or admission in 2019 for an individual with Down syndrome by age.

IDS also had more frequent emergency department visits (9.1%, RR = 2.4), especially for the younger age groups, and had higher rates of short-stay hospitalization (24.3%, RR = 1 .6) and hospitalization at home (0.6%, RR = 6), especially for younger people and those near the end of life. A similar but less pronounced pattern was observed for rehabilitation care (1.5%, RR = 2.3) and psychiatric hospital stays (1.1%, RR = 1.6) (Table 5, Fig. 2) .

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